Description:
GLYCOGEN STORAGE DISEASE II
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Alternate IDs |
GM17077 [GLYCOGEN STORAGE DISEASE II] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
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|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
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DNA from LCL
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|
Race
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White
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Ethnicity
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PUERTO RICAN
|
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Family Member
|
3
|
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Relation to Proband
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father
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Confirmation
|
Clinical summary/Case history
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|
Species
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Homo sapiens
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|
Common Name
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Human
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|
Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Puerto Rican; clinically unaffected; 1 affected daughter |
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